Benefit of high-dose oral riboflavin therapy in Riboflavin Transporter Deficiency.

Riboflavin supplementation is a life-saving intervention for patients with RTD and results in profound improvement in several functional domains, with early diagnosis and treatment further improving outcomes. Despite treatment, patients are left with residual disability. There is a need to accurately measure functional outcomes in children with RTD and develop additional disease modifying therapies. This article is protected by copyright. All rights reserved.